title: New familial heterozygous c 4066_4068 delTT 2 bp deletion of the SCN5A gene causing Brugada syndrome.
abstract: BACKGROUND
  Cardiac sodium channel alterations have been identified as the underlying condition in patients with Brugada syndrome.
  
  
  OBJECTIVE
  This study identified a novel mutation of the SCN5A gene in a family with Brugada syndrome.
  
  
  METHODS
  Blood was drawn from the children and mother for genetic analysis. All exons of the SCN5A gene were amplified by polymerase chain reaction, and a sequence analysis was performed.
  
  
  RESULTS
  The mutation was detected in 1 symptomatic and 2 asymptomatic family members. The deletion of base 4066_4068delTT leads to a shift in the amino acid sequence and a premature stop of the protein translation. The clinical diagnosis of Brugada syndrome in this family was supported by the detection of the new mutation.
  
  
  CONCLUSIONS
  We describe a family partly with Brugada syndrome and a novel mutation in the exon 23 of the SCN5A gene leading to a deletion of 2 thymidine bases. This mutation results in an early termination of the encoded protein and possibly in a nonfunctional channel protein.
authors.affiliation: University Leipzig, Heart Center, Department of Internal Medicine/Cardiology, Leipzig, Germany. moes@medizin.uni-leipzig.de
authors.forename: Sven
authors.initials: S
authors.lastname: Möbius-Winkler
authors.forename: Ingo
authors.initials: I
authors.lastname: Dähnert
authors.forename: Gerhard
authors.initials: G
authors.lastname: Hindricks
authors.forename: Gerhard
authors.initials: G
authors.lastname: Schuler
authors.forename: Volker
authors.initials: V
authors.lastname: Adams
mesh_terms: D053840:Brugada Syndrome / Q000235:genetics* / Q000628:therapy; D002648:Child; D002872:Chromosome Deletion; D004252:DNA Mutational Analysis; D017147:Defibrillators, Implantable; D004562:Electrocardiography; D006801:Humans; D008297:Male; D009154:Mutation; D062554:NAV1.5 Voltage-Gated Sodium Channel; D017421:Sequence Analysis; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human; D015222:Sodium Channels